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Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review

Abstract Background Variants in the LAGE3 gene can lead to Galloway-Mowat syndrome (GAMOS), a rare genetic disease. Currently, there have been a total of 6 reported cases worldwide, all occurring in children under the age of 3 years old. The main features of LAGE3 variants include early-onset nephro...

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מידע ביבליוגרפי
Principais autores: Jieru Wei, Gongping Zhao, Lijie Li, Cuihua Liu, Jitong Li
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2025-06-01
סדרה:BMC Pediatrics
נושאים:
גישה מקוונת:https://doi.org/10.1186/s12887-025-05810-6
תגים: הוספת תג
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